Fraccaro Syndrome: Report of Two Iranian Cases: An Infant and an Adult in A Family
Abstract
49,XXXXY is rare chromosomal pattern and these patients have mental retardation, small penis, cryptorchidism and skeletal anomalies. We reported a 10 month-old boy who has hypotonia, microcephaly, hypertelorism, depressed nasal bridge, epicanthic folds and bilateral multiple ear tags, high arched palate, down set ears, micrognathia and congenital heart disease such as patent ductus arteriosus (PDA), Atrial septal defect (ASD), mild pulmonary stenosis. Among the skeletal anomalies, he has kyphoscoliosis, clinodactyly of the fourth and fifth fingers of both hands, and bilateral club foot and unilateral dysplasia of the hip. Karyotype was found as 49,XXXXY[44]/48,XXXY[6] and this cytogenetic analysis was help to establish clinical diagnosis Fraccaro syndrome.
Visootsak J, Graham JM Jr: Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis 2006;1:42.
G. Shashidhar Pai, Raymond C. Lewandowski, Jr., Digamber S. Borgaonkar: Hand book of Chromosomal Syndromes: ISBN: 978-0-471-37217-2 ,342-343
Klinefelter HF, Reifenstein EC, Albright F: Syndrome characterized by gynecomastia aspermatogenes without ALeydigism and increased excretion of follicle stimulating hormone. J Clin Endocrinol Metab 1942, 2:615-627.
Hirschhorn K, Hirschhorn R, Fraccaro M, Book JA. Incidence of familial hyperlipemia. Science 1959;129(3350):716-7.
Fraccaro M, Kaijser K, Lindsten J. A child with 49 chromosomes. Lancet 1960;2(7156):899-902.
Wattendorf DJ, Muenke M. Klinefelter syndrome. Am Fam Physician 2005;72(11):2259-62.
Peet J, Weaver DD, Vance GH. 49,XXXXY: a distinct phenotype. Three new cases and review. J Med Genet 1998;35(5):420-4.
Hou JW. 49, XXXXY syndrome. Chang Gung Med J 2004;27(7):551-4.
Lia EN, Otero SAM, Ferraz M, Gonçalves LPV. Oral aspects of 49, XXXXY syndrome: a case report. J Dentist Child 2007;74(2):136-9.
Guzel AI, Demirhan O, Pazarbasi O, Ozgunen FT, Kocaturk-Sel S, Tastemir D. Detection of parental origin and cell stage errors of a double nondisjunction in a fetus by QF-PCR. Genet Test Molec Biomark 2009;13(1):73-7.
Celik A, Eraslan S, Gokgoz N, Ilgin H, Basaran S, Bokesoy I, Kayserili H, Yuksel-Apak M, Kirdar Betul. Identification of the parental origin of polysomy in two 49, XXXXY cases. Clin Genet 1997;51(6):426-9.
| Files | ||
| Issue | Vol 51, No 12 (2013) | |
| Section | Articles | |
| Keywords | ||
| 49 XXXXY Fraccaro syndrome Facial dysmorphism Skeletal anomalies | ||
| Rights and permissions | |
|
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
